ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099343
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43291
ClinVar RCV Id:
RCV000036196
RCV000668897
RCV001069199
RCV001826553
RCV003323370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg1873Trp
CA278686
NM_000260.4:c.5617C>T